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Biomedical subjects

I García-Morales

Publications and source records attributed to I García-Morales.

13 recordsLinked to original sources
PubMed2005

[Specific language disorders: their diagnosis, classification and study using magnetoencephalography].

INTRODUCTION: Specific language disorder (SLD) is defined as a disorder in which language is slow and retarded with respect to the patient's chronological age, and which is not related to a sensory-auditory or motor deficit or to a pervasive development disorder; in other words, structural and functional neurological developmental disorders must be excluded. After many studies and attempts to reach an agreement, specific language disorders have been broadly classified into two groups: specific expressive language disorder and specific receptive-expressive language disorder. AIMS: Our objective was to study SLD using magnetoencephalography (MEG) in order to look for epileptiform manifestations in precise language areas. PATIENTS AND METHODS: We studied a sample made up of 11 patients with SLD, one of whom had Landau-Kleffner syndrome and one with cryptogenic-type SLD. The criteria used were age-dependent autism exclusion tests and specific language tests for SLD. The MSI technique was carried out on all the patients, by magnetic resonance and MEG. RESULTS: A characteristic pattern is obtained for SLD in the form of irregular spike and polyspike-wave discharges in bilateral frontal channels. The dipoles were situated mainly in the left perisylvian areas. CONCLUSIONS: The study of specific language disorders using MEG enables us to identify the SLD included in a proposed classification as primary-type specific language disorder, cryptogenic-type specific language disorder and secondary-type type specific language disorder, like Landau-Kleffner syndrome.

Language Disorders↗
PubMed2005

Ofuji papuloerythroderma evolving to cutaneous T-cell lymphoma.

Ofuji papuloerythroderma is an uncommon entity of unknown aetiology, characterized by a pruritic eruption of widespread, red-brown, flat papules that leads to spare skin folds. A number of cases have been described associated with tumour pathology, mainly cutaneous T-cell lymphomas. We report a new case of Ofuji papuloerythroderma evolving to cutaneous T-cell lymphoma in an 85-year-old woman who had been previously diagnosed with papuloerythroderma 7 years previously.

Aged↗
PubMed2003

[CADASIL: a case with clinical, radiological, histological and genetic diagnoses].

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare inherited cerebrovascular disease. The onset of clinical symptoms occurs with migraine with aura, transient ischemic attacks, recurrent subcortical ischemic infarcts, neuropsychiatric changes reaching subcortical dementia. Brain magnetic resonance images show multiple deep cerebral infarcts in white matter and basal ganglia and diffuse leukoencephalopathy. Neuropathologic hallmark consists of deposition of small electron dense granular patches related to the basement membrane of vascular smooth muscle cells with degeneration of smooth muscle cells and media and luminal obliteration. Recently, the genetic characteristics of this disorder have been reported. Missense mutations in notch3 gene localized in chromosome 19 are involved in its pathogenesis. Only three families from Spain have been reported. Here we describe a patient with typical clinical symptoms, neuroimaging and pathology of CADASIL. C406T (Arg110Cys) mutation in notch3 gene was found. We comment on the clinical symptoms of different members of the patient's family.

Dementia, Multi-Infarct↗
PubMedDate not supplied

[Gamma-sarcoglycanopathy:two new cases in a gypsy family family in Spain].

INTRODUCTION: Included under the heading of limb girdle muscular dystrophy is a heterogeneous group of myopathies which share the same phenotype characteristics. The illness is of early onset, progressive and basically involves muscles of the shoulder and pelvic girdles. Recent identification of muscle proteins and the genes which codify them has led to new classification of these conditions according to their genetic characteristics. It is currently accepted that there are two major groups: the dominant and recessive forms. The latter includes type 2C limb girdle muscular dystrophy associated with chromosome 13, where the gene for gamma-sarcoglycan is found. This protein belongs to the glycoprotein complex associated with dystrophin. Recently a new mutation has been identified, the C283Y, exclusive to the Gypsy race, which affects this gene and therefore the alterations in gamma-sarcoglycan produced by it. CLINICAL CASE: We describe two patients, Gypsy brothers, who complained of myopathy, which they had had for some years, compatible with this condition and in whom the C283Y mutation had recently been detected. CONCLUSIONS: We describe another Spanish Gypsy family, all members of which have the characteristic mutation. We emphasize the importance of genetic studies in all cases of myopathy which have not been fully diagnosed.

Biopsy↗
PubMedDate not supplied

[Intradural spinal arachnoid cyst associated with Noonan's syndrome].

INTRODUCTION: Intradural spinal arachnoid cysts are collections of liquid similar to CSF, caused by a disorder of the arachnoid trabeculae. Noonan s syndrome is a condition involving multiple malformations, with autosomal dominant inheritance, variable penetration and expression and a phenotype similar to that of Turner s syndrome. We describe the case of a girl with Noonan s syndrome who presented with progressive scoliosis and signs and symptoms of a disorder of the spine related to an intradural spinal arachnoid cyst. CLINICAL CASE: A four year old girl with no significant previous clinical history was seen for slow growth (in size and weight), progressive scoliosis and urinary sphincter dysfunction. On physical examination there were features of polymalformation compatible with Noonan s syndrome and thoracic scoliosis. In view of this a spinal MR study was done. This showed an intradural arachnoid cyst from segment T4 to T11, with displacement and spinal narrowing which required a cyst-peritoneal shunt. CONCLUSIONS: Intradural spinal arachnoid cysts are collections of liquid produced due to arachnoid trabeculae. Noonan s syndrome is a condition involving multiple malformations with a phenotype which is very similar to that of Turner s syndrome. It is linked to alterations of tissue elastin which favor the appearance of arachnoid cysts. Arachnoid cysts are an uncommon cause of spinal compression and/or progressive scoliosis. Although this association has not been described previously, in the case of a patient with Noonan s syndrome, with clinical features of a spinal disorder and/or progressive scoliosis, the presence of a spinal arachnoid cyst should be considered.

Arachnoid Cysts↗
PubMedDate not supplied

[Cerebral cavernomas in childhood. clinical presentation and diagnosis].

INTRODUCTION: Intracranial vascular malformations are congenital lesions due to alterations in the development of the arteriolocapillary network. Traditionally they are divided into four types according to their histological characteristics: arteriovenous malformations, cavernous angiomas or cavernomas, venous angiomas and telangectasias. The cavernomas are multilobulated lesions which are clearly delimited and contain blood at different stages of evolution. Histologically they are composed of sinusoidal spaces lined by endothelium and closely interlinked, without intervening nervous tissue. They are usually found at a supratentorial level, and less frequently in the posterior fossa. PATIENTS AND METHODS: We made a retrospective review of the histories of 11 patients aged between 2 and 10 years, diagnosed as having intracranial cavernomas in which imaging techniques lead to the diagnosis of intracranial cavernoma. In two patients there were multiple cavernomas. We analysed the method of diagnosis and clinical features on presentation. RESULTS: The clinical features were varied. In six patients the onset of the disorder was with epileptic seizures, three had progressive neurological deficits, one patient had headache and vomiting which progressed to coma and another had a history of non specific fainting and deficit. All but one of the cavernomas were supratentorial. CONCLUSIONS: Cavernomas are a type of vascular malformation with specific histological features. The usual clinical features are convulsions and parenchymatous bleeding. They are generally supratentorial. The appearance of MR has permitted diagnosis of asymptomatic cavernomas and is currently considered to be the technique of choice for diagnosis.

Adolescent↗
PubMedDate not supplied

[Periodic lateralised epileptiform discharges as a form of presentation of neurosyphilis].

INTRODUCTION: Neurosyphilis is a recognised cause of epileptic seizures, but its association with periodic lateralised epileptiform discharges (PLED) has been described only rarely, in spite of the fact that it gives rise to acute vascular lesions. CLINICAL CASE: We report the case of a male patient who was diagnosed as having meningovascular syphilis after the onset of tonic clonic epileptic seizures and PLED in the left frontotemporal region. The initial neurological exploration revealed a syndrome of confusion and mild mixed, but predominantly motor, dysphasia. In complementary tests, the most noteworthy features were positive luetic serology in the blood and in cerebrospinal fluid (CSF), which was confirmed by means of treponemic assays. The patient was treated with penicillin for two weeks. The study was completed with a magnetic resonance (MR) brain scan that showed a small left temporal infarction, which was the origin of the clinical and electrical convulsive activity. The patient s evolution was satisfactory, with an improvement in the language disorder, and the seizures were controlled after the administration of phenytoin. The control electroencephalogram (EEG) that was performed later only showed a slowing in the known injured area. CONCLUSIONS: PLED are an infrequent electroencephalographic pattern whose appearance has been linked with acute brain lesions, mainly with strokes, tumours and meningoencephalitis. When, exceptionally, they appear as a consequence of an ischemia secondary to meningovascular syphilis their significance, clinical features and prognosis do not differ from other causes of a cerebrovascular disease.

Alcoholism↗